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mutLBSgeneDB |
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| Gene summary for PFKFB3 |
 Gene summary |
| Basic gene Info. | Gene symbol | PFKFB3 |
| Gene name | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | |
| Synonyms | IPFK2|PFK2 | |
| Cytomap | UCSC genome browser: 10p15.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001145443.1, NM_001282630.1,NM_004566.3, | |
| Description | 6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 36PF-2-K/Fru-2,6-P2ase 36PF-2-K/Fru-2,6-P2ase brain/placenta-type isozymePFK/FBPase 3fruct | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605319 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000170525 | ||
| HPRD : 05612 | ||
| Vega : OTTHUMG00000017621 | ||
| Protein | UniProt: Q16875 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PFKFB3 | |
| BioGPS: 5209 | ||
| Pathway | NCI Pathway Interaction Database: PFKFB3 | |
| KEGG: PFKFB3 | ||
| REACTOME: PFKFB3 | ||
| Pathway Commons: PFKFB3 | ||
| Context | iHOP: PFKFB3 | |
| ligand binding site mutation search in PubMed: PFKFB3 | ||
| UCL Cancer Institute: PFKFB3 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for PFKFB3 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N257 | E256K | BRCA | 1 | R393,Q389 | V391L | COAD | 1 | Q199 | S197R | OV | 1 | C206 | R208G | SKCM | 1 | R99 | R99W | STAD | 1 | A45 | A45T | STAD | 1 | S163 | A162T | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for PFKFB3 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | C206 | R208G | -1.1629513 | S163 | A162T | -0.97797015 | R99 | R99W | -0.82067436 | N257 | E256K | -0.80472084 | Q199 | S197R | -0.79847645 | A45 | A45T | -0.7881751 | Q389 | V391L | -0.49623018 | R393 | V391L | -0.49623018 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for PFKFB3 from PDB |
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| Differential gene expression and gene-gene network for PFKFB3 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for PFKFB3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0028754 | Obesity | 2 | Biomarker, GeneticVariation |
| umls:C0311375 | Arsenic Poisoning | 1 | Biomarker |
| umls:C0151744 | Myocardial Ischemia | 1 | Biomarker |
| umls:C0037274 | Skin Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PFKFB3 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PFKFB3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of PFKFB3 |
| Multiple alignments for Q16875 in multiple species |
| LBS | AA sequence | # species | Species | A126 | IAVFDATNTTR | 2 | Homo sapiens, Rattus norvegicus | A126 | VAIFDATNTTK | 1 | Caenorhabditis elegans | A45 | MVGLPARGKTY | 3 | Homo sapiens, Caenorhabditis elegans, Rattus norvegicus | C155 | FIESVCDDPTV | 2 | Homo sapiens, Rattus norvegicus | C155 | FIESVCDDPAI | 1 | Caenorhabditis elegans | C206 | LDPDKCDRDLS | 2 | Homo sapiens, Rattus norvegicus | C206 | LDESE-DESLS | 1 | Caenorhabditis elegans | E167 | ASNIMEVKISS | 2 | Homo sapiens, Rattus norvegicus | E167 | DCNVTDVKVNS | 1 | Caenorhabditis elegans | E323 | WKALNEIDAGV | 2 | Homo sapiens, Rattus norvegicus | E323 | WKALDELDAGI | 1 | Caenorhabditis elegans | F187 | -AMDDFMKRIS | 1 | Homo sapiens | F187 | QAKEDFMNRIE | 1 | Caenorhabditis elegans | F187 | -AMDDFMKRIN | 1 | Rattus norvegicus | F222 | DVGRRFLVNRV | 2 | Homo sapiens, Rattus norvegicus | F222 | NAGRSFKVHQV | 1 | Caenorhabditis elegans | F88 | SSYNFFRPDNE | 2 | Homo sapiens, Rattus norvegicus | F88 | ANASFFSPNNA | 1 | Caenorhabditis elegans | G219 | KVIDVGRRFLV | 2 | Homo sapiens, Rattus norvegicus | G219 | KVINAGRSFKV | 1 | Caenorhabditis elegans | G266 | LQGRIGGDSGL | 1 | Homo sapiens | G266 | AMGRLGGDSPL | 1 | Caenorhabditis elegans | G266 | VQGKIGGDSGL | 1 | Rattus norvegicus | G47 | GLPARGKTYIS | 3 | Homo sapiens, Caenorhabditis elegans, Rattus norvegicus | G72 | KVFNVGEYRRE | 2 | Homo sapiens, Rattus norvegicus | G72 | KVFNVGEYRRS | 1 | Caenorhabditis elegans | H243 | YLMNIHVQPRT | 2 | Homo sapiens, Rattus norvegicus | H243 | FLMNIHLLPRS | 1 | Caenorhabditis elegans | H254 | IYLCRHGENEH | 1 | Homo sapiens | H254 | IYLTRHGQSEY | 1 | Caenorhabditis elegans | H254 | IYLCRHGENEY | 1 | Rattus norvegicus | H388 | VLVICHQAVLR | 2 | Homo sapiens, Rattus norvegicus | H388 | VLVVSHQAVLR | 1 | Caenorhabditis elegans | I165 | VVASNIMEVKI | 2 | Homo sapiens, Rattus norvegicus | I165 | IIDCNVTDVKV | 1 | Caenorhabditis elegans | I242 | YYLMNIHVQPR | 2 | Homo sapiens, Rattus norvegicus | I242 | YFLMNIHLLPR | 1 | Caenorhabditis elegans | I265 | NLQGRIGGDSG | 1 | Homo sapiens | I265 | NAMGRLGGDSP | 1 | Caenorhabditis elegans | I265 | NVQGKIGGDSG | 1 | Rattus norvegicus | I51 | RGKTYISKKLT | 2 | Homo sapiens, Rattus norvegicus | I51 | RGKTYISKKLC | 1 | Caenorhabditis elegans | K169 | NIMEVKISSPD | 2 | Homo sapiens, Rattus norvegicus | K169 | NVTDVKVNSPD | 1 | Caenorhabditis elegans | K205 | PLDPDKCDRDL | 2 | Homo sapiens, Rattus norvegicus | K205 | PLDESE-DESL | 1 | Caenorhabditis elegans | K352 | LREQDKYYYRY | 2 | Homo sapiens, Rattus norvegicus | K352 | DRATDKYHYRY | 1 | Caenorhabditis elegans | K48 | LPARGKTYISK | 3 | Homo sapiens, Caenorhabditis elegans, Rattus norvegicus | L239 | RIVYYLMNIHV | 2 | Homo sapiens, Rattus norvegicus | L239 | RVVYFLMNIHL | 1 | Caenorhabditis elegans | M240 | IVYYLMNIHVQ | 2 | Homo sapiens, Rattus norvegicus | M240 | VVYFLMNIHLL | 1 | Caenorhabditis elegans | N128 | VFDATNTTRER | 2 | Homo sapiens, Rattus norvegicus | N128 | IFDATNTTKDR | 1 | Caenorhabditis elegans | N164 | TVVASNIMEVK | 2 | Homo sapiens, Rattus norvegicus | N164 | AIIDCNVTDVK | 1 | Caenorhabditis elegans | N257 | CRHGENEHNLQ | 1 | Homo sapiens | N257 | TRHGQSEYNAM | 1 | Caenorhabditis elegans | N257 | CRHGENEYNVQ | 1 | Rattus norvegicus | N260 | GENEHNLQGRI | 1 | Homo sapiens | N260 | GQSEYNAMGRL | 1 | Caenorhabditis elegans | N260 | GENEYNVQGKI | 1 | Rattus norvegicus | N70 | PTKVFNVGEYR | 2 | Homo sapiens, Rattus norvegicus | N70 | TTKVFNVGEYR | 1 | Caenorhabditis elegans | P44 | VMVGLPARGKT | 3 | Homo sapiens, Caenorhabditis elegans, Rattus norvegicus | Q199 | YEASYQPLDPD | 2 | Homo sapiens, Rattus norvegicus | Q199 | YKKQYEPLDES | 1 | Caenorhabditis elegans | Q389 | LVICHQAVLRC | 2 | Homo sapiens, Rattus norvegicus | Q389 | LVVSHQAVLRC | 1 | Caenorhabditis elegans | R131 | ATNTTRERRHM | 2 | Homo sapiens, Rattus norvegicus | R131 | ATNTTKDRRRI | 1 | Caenorhabditis elegans | R133 | NTTRERRHMIL | 2 | Homo sapiens, Rattus norvegicus | R133 | NTTKDRRRIII | 1 | Caenorhabditis elegans | R190 | DDFMKRISCYE | 1 | Homo sapiens | R190 | EDFMNRIENYK | 1 | Caenorhabditis elegans | R190 | DDFMKRINCYE | 1 | Rattus norvegicus | R253 | TIYLCRHGENE | 2 | Homo sapiens, Rattus norvegicus | R253 | SIYLTRHGQSE | 1 | Caenorhabditis elegans | R348 | EEYALREQDKY | 2 | Homo sapiens, Rattus norvegicus | R348 | KQADDRATDKY | 1 | Caenorhabditis elegans | R393 | HQAVLRCLLAY | 2 | Homo sapiens, Rattus norvegicus | R393 | HQAVLRCVLAY | 1 | Caenorhabditis elegans | R46 | VGLPARGKTYI | 3 | Homo sapiens, Caenorhabditis elegans, Rattus norvegicus | R75 | NVGEYRREAVK | 2 | Homo sapiens, Rattus norvegicus | R75 | NVGEYRRSDAN | 1 | Caenorhabditis elegans | R76 | VGEYRREAVK- | 2 | Homo sapiens, Rattus norvegicus | R76 | VGEYRRSDANA | 1 | Caenorhabditis elegans | R99 | EAMKVRKQCAL | 1 | Homo sapiens | R99 | DALKVRAESAR | 1 | Caenorhabditis elegans | R99 | EAMRVRKQCAL | 1 | Rattus norvegicus | S153 | AFFIESVCDDP | 2 | Homo sapiens, Rattus norvegicus | S153 | CFFIESVCDDP | 1 | Caenorhabditis elegans | S163 | PTVVASNIMEV | 2 | Homo sapiens, Rattus norvegicus | S163 | PAIIDCNVTDV | 1 | Caenorhabditis elegans | T127 | AVFDATNTTRE | 2 | Homo sapiens, Rattus norvegicus | T127 | AIFDATNTTKD | 1 | Caenorhabditis elegans | T441 | VESVCTHRERS | 1 | Homo sapiens | T441 | LES----GEWT | 1 | Caenorhabditis elegans | T441 | VESVSTHRERS | 1 | Rattus norvegicus | T49 | PARGKTYISKK | 3 | Homo sapiens, Caenorhabditis elegans, Rattus norvegicus | V160 | CDDPTVVASNI | 2 | Homo sapiens, Rattus norvegicus | V160 | CDDPAIIDCNV | 1 | Caenorhabditis elegans | V168 | SNIMEVKISSP | 2 | Homo sapiens, Rattus norvegicus | V168 | CNVTDVKVNSP | 1 | Caenorhabditis elegans | V215 | LSLIKVIDVGR | 1 | Homo sapiens | V215 | LSFIKVINAGR | 1 | Caenorhabditis elegans | V215 | LSFIKVIDVGR | 1 | Rattus norvegicus | V218 | IKVIDVGRRFL | 2 | Homo sapiens, Rattus norvegicus | V218 | IKVINAGRSFK | 1 | Caenorhabditis elegans | V244 | LMNIHVQPRTI | 2 | Homo sapiens, Rattus norvegicus | V244 | LMNIHLLPRSI | 1 | Caenorhabditis elegans | V71 | TKVFNVGEYRR | 3 | Homo sapiens, Caenorhabditis elegans, Rattus norvegicus | Y194 | KRISCYEASYQ | 1 | Homo sapiens | Y194 | NRIENYKKQYE | 1 | Caenorhabditis elegans | Y194 | KRINCYEASYQ | 1 | Rattus norvegicus | Y334 | CEELTYEEIRD | 2 | Homo sapiens, Rattus norvegicus | Y334 | CEGLTYEDILQ | 1 | Caenorhabditis elegans | Y363 | PTGESYQDLVQ | 2 | Homo sapiens, Rattus norvegicus | Y363 | PSGESYEDVVS | 1 | Caenorhabditis elegans | Y425 | LTPVAYGCRVE | 2 | Homo sapiens, Rattus norvegicus | Y425 | LTPRAYHCDST | 1 | Caenorhabditis elegans | Y50 | ARGKTYISKKL | 3 | Homo sapiens, Caenorhabditis elegans, Rattus norvegicus |
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